The Cole-Carpenter Syndrome is a rare hereditary disorder that is a type of osteogenesis imperfecta.
Chromosome:
Gene: P4HB (prolyl 4-hydroxylase subunit beta), in the protein disulfide isomerase family
Onset: infancy or early childhood
Clinical features:
(1) severe bone fragility with frequent fractures (associated with increased bone resorption)
(2) variable craniosynostosis
(3) ocular proptosis
(4) hydrocephlaus, with macrocephaly
(5) facial dysmorphism, which varies with ethnic background
(6) preserved intellectual performance
(7) variable scoliosis
(8) variable limb deformities
Facial features:
(1) frontal bossing
(2) dental abnormalities
(3) midface hypoplasia
(4) blue sclerae
(5) small nose
(6) flat nasal bridge
(7) broad face
(8) open fontanelle
